Dementia? We prefer we do not know: These co-cousins ​​show why they decided not to test them


Most of us are unsure about what might be ahead – but did you want to find out if you had a good chance to possess an unpleasant disease?

This is closer to being more people, with the Secretary of Health, by Matt Hancock, announcing today that the NHS can sell their genetic data to the patients to find out what they are doing, Future health may take place.

But some families already have this difficult problem. Families such as Carli Pirie, from Biggleswade, Bedfordshire, which includes her brother and sister and her two cousin – Jack Bradshaw, 29, and his brother Tom, 32, from Stevenage, Hertfordshire.

It is because their family has a Alzheimer's elongated elbow behavior is at the beginning. Their mothers, Tracey and Nicole, and her mother's grandmother, Anna, were all in their position, and their cousins ​​also have an additional 50% chance to influence them.

Family connections: Carli Pirie (middle) and his two cousins, Jack Bradshaw (right) and Tom Bradshaw (left) to run the London Marathon For Dementia Reveloution

Family connections: Carli Pirie (middle) and his two cousins, Jack Bradshaw (right) and Tom Bradshaw (left) to run the London Marathon For Dementia Reveloution

Most Alzheimer's cases – 99 per cent – are not considered one gene. Although there are about 20 genera related to higher risk of Alzheimer's, this is a low impact but people are developing it.

But when Alzheimer's began, three different genera were identified; If you get one of them, you will take the disease.

One of them is Carli's mother, sister-in-law and grandmother, called a protein that proposes amyloid (APP); The others appear 1 and 2.

These genes are involved in making a protein called amyloid. If one of these generates is unfair, extraordinary construction may be made of the protein in the brain that causes clubs or recordings, a special feature of Alzheimer's.

The large bottles of protein are coherent to & # 39; upset the brain and make it difficult for brain cells to communicate with each other, and eventually kill brain cells, and explain Dr. David Reynolds, Alzheimer's scientific chief & # 39; s Research UK.

For Carli, there are 31, her brothers and cousins, who show that they are. come to maternal democracy to dementia within a few years, have been very tough – they are now living in care homes and almost not recognize their families. But they are also alive with the knowledge that 50% have a chance to develop the same disease.

We could all find out tomorrow if we have the ungodly gene – but so far none of these have chosen to do, & # 39; said Carli, co-ordinator of a construction project that lives with Alex's partner, 35, who is running an engineering company, and Olivia's daughter, ten.

It's not an easy decision to do this, since we all have seen what her grandmother and my mother and sister have passed, but there is still no cure or effective cure. & # 39;

Did you know? There are more than 5 million people suffering from the disease in the US, where it is the 6th largest cause of death.

Did you know? There are more than 5 million people suffering from the disease in the US, where it is the 6th largest cause of death.

Grandmother Charli, Anna, developed Alzheimer's age of just 48 in 1987 and died at 65, after having been identifying her love for many years.

However, at the time it was confirmed that the family was aware of the hereditary disease – an APP gene was not detected until 1991.

& # 39; Everyone who & # 39; getting more secret when they are older, but when Mom started to reassure herself and her, forget things in the late 40's, I had a fascinating sense that history was going back again, & # 39; said Carli.

"She asked me to talk and talk long, and I'll be welcome back a few minutes later and tell me everything again, without any memory of the conversation. 39; we just have. & # 39;

Alzheimer's mother's care was confirmed by Carli Tracey's care, a little later after, in 2010, at the age of 50, and her memory had fallen rapidly over the next three years.

Her mother had a & # 39; becoming frightening and expressing – she thought people were trying to get into the house, "said Carli. When I visited her, I was mistaken for others. It was hard. & # 39;

Tracey finally moved to a nursing home near Carli and her sister. Only 58, now she is bound by bed and struggling to recognize her father when they go to her. visit.

It was confirmed that Tracey's younger sister Nicole, in the same situation was six years ago at the age of 48, three years after her sister – the family is of the opinion that his great-grandfather also had an influence.

For the last seven years, Carli has been participating in a research project known as the Dominantly Inherited Alzheimer's Network (DIAN) at the University of London College, Monitor the health of extended family of people at Alzheimer's early APP risk with annual brain scans, as well as blood, backbone and mental exams.

Alzheimer's disease is an advanced, acute illness in the brain, which involves the erection of unusual prototypes causing the death of strange cells

Alzheimer's disease is an advanced, acute illness in the brain, which involves the erection of unusual prototypes causing the death of strange cells

The researchers already know – from the blood test results – if Carli's gene is or is not. She has now resolved herself this year.

I changed my email; mind after meeting someone at the DIAN conference who said she was reinforced by getting out, & # 39; said Carli.

& # 39; People who & # 39; Ask me how I would be living with the knowledge I was going to bring Alzheimer's in the 40s or early 50s, but I'm going to give it to her. think every day anyway. I'm worried about my future. And, indeed, if it affects me, there is an opportunity for my daughter to be, too. & # 39;

Dr Amanda Heslegrave, a leading research company at the UK Dementia Research Institute at the University of London College, analyzes cerebrospinal fluid (CSF) and blood specimens from volunteer families with a history similar to Alzheimer's to Carli.

& # 39; We know that some changes to & # 39; happen in the year before the signs start, & # 39; explaining Dr. Heslegrave. & # 39; In & # 39; Investigating the ones we know are sure to develop the disease, we can identify these changes.

& # 39; For example, we have identified that neurofilament light levels, a type of sphagnum for protein, and Starting up in CSF and in the blood when neurodegeneration in the brain. & # 39;

It is possible in the future that this chemical may be used as bio-marks to inform scientists if any drug treatment is developed.

Co-cousin Carli, Jack Bradshaw, a team manager with Network Rail, and his partner Nikki, 32, have a talk assistant – who has two children aged six to six months – and look at the same option as well as Carli.


Alzheimer's disease is an advanced, non-abnormal disease in the brain, where the erection of unusual prototypes causes stomach cells to die.

This will delete the transcenders that are missing; transportation of messengers, and causing the brain to decline

There are more than 5 million people suffering from the disease in the US, where it is the 6th largest cause of death.


As brain cells die, the actions that they offer are lost

That includes memory, guidance and ability to think and cause.

The progress of illness is slow and slow.

On average, patients live five to seven years after review, but some may live for ten to 15 years.


  • It looks like short-term memory
  • Duilgheadas
  • Behavioral changes
  • Mood swings
  • Problems dealing with money or a & # 39; phone making


  • Lost big memory, forget about close family members, familiarities or places
  • Being unhappy and unhappy about incapacity to be in a position; makes sense of the world, leading to aggressive behavior
  • Eventually losing ability to walk
  • Eating problems may be
  • Most people need 24 hour care

Source: Alzheimer's Society

"Clearly, I knew when I was a boy that my ocean was not ok, but I did not think it was something that could go down until Mum could prove," said Jack.

Her mother had been a man – we gave her her name Superwoman – but she was taken away suddenly and forgot her. She would do things like going out to her kitchen to make a cup of tea and then forget about it.

One day I got a call saying that Mom left the front door long and # 39; Dad was outdoors working.

The APP is a very aggressive gene, so Mum went down the hill very quickly. Increasingly, it did not; She could leave her alone during the day, and two years and a half from her she had to go into her care home.

& These sites I do not have a & # 39; I think Mum knows who I am, and Jack's aunt; added.

"One of the worst things not only does not know if it is affecting me, but it's my chance that my children may have an impact on it. When Mam was tested First of all, I thought I was in a position to deny that it would affect me, and it's only in the last year I have taken I'm in danger. "

Until now Jack has chosen to be underestimated – but now he wants to start advising as preparation.

On balance, now I am going to; I think I'd like to know because I'm worried about at least, & # 39; he says.

His brother Tom, a hero, who lives with his wife Jaymie, 30, and the two children aged 11 and six, says: "When I visit Mam in In the nursing home, I'm afraid that my children will do one day for me.

"I did not have a test, either. I have been focusing on the benefits and accounts for two years but I can not still make a decision. & # 39;

Dr Reynolds said: & The problem is that there is no remedy for APP at this time. This is why a genetic test has been so much tested.

The results can be a major refusal or opposition, although some argue that the unthinking gene is a allows you to plan for the future and take part in research investigations where medicines can be given at an earlier stage when we know there are changes that occur but the symptoms are not The development is still. & # 39;

Carli, Alex, Jack, Tom and Jaymie are running the London Marathon in April to help Dementia Revolution, a joint venture with Alzheimer's UK and Alzheimer's Research UK to fund research.

Carli says she `s sometimes a & # 39; I get a bad day if I saw Mom or I'm thinking too late in the future, but I still hope that I can be sure.

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